The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

INTRODUCTION: Canavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients. MATERIALS AND METHODS: MRI findings in 18 patients with confirmed CD were investigated, and the full spectrum of brain abnormalities was compared with the existing literature to provide new insights regarding the brain MRI findings in these patients. All the cases were proven based on genetic study or NAA evaluation in urine or brain. RESULTS: Imaging analysis showed involvement of the deep and subcortical white matter as well as the globus pallidus in all cases, with sparing of the putamen, caudate, and claustrum. The study provides updates on the imaging characteristics of CD and validates some underreported findings such as the involvement of the lateral thalamus with sparing of the pulvinar, involvement of the internal capsules and corpus callosum, and cystic formation during disease progression. CONCLUSION: To our knowledge, this is one of the largest case series of patients with CD which includes a detailed description of the brain MRI findings. The study confirmed many of the previously reported MRI findings but also identified abnormalities that were previously rarely or not described. We speculate that areas of ongoing myelination are particularly vulnerable to changes in CD.

Giant Basal Cell Carcinoma of the Scalp with Intracranial Invasion: MRI Findings with Tract Visualisation.

A rare case of recurrent basal cell carcinoma in the scalp that infiltrated multiple intracranial structures is presented. Basal cell carcinoma represents one of the most frequent malignant nonmelanotic skin neoplasms, but the majority of them have no aggressive and recurrent behaviour. The aim of this case report is to provide an overview of the main clinical and radiologic features of basal cell carcinoma, focusing on the conventional and advanced (tractography) MRI findings and providing an overview of treatment and prognosis.

Anatomical Variations in Aortic Arch Branching Pattern.

BACKGROUND: The branch anatomy of the aortic arch varies widely between individuals. These are likely due to alterations in the development of aortic arch arteries during the embryonic period. The purpose of this study is to determine the frequency of the aortic arch branch variations in the local population and provide useful data to intervention radiologists, neck and thoracic surgeons. METHODS: In this study, branching pattern of the aortic arch in 226 patients was retrospectively evaluated by MR angiography. MRA performed on a high field 3 Tesla MRI scanner using 3D flash sequence. RESULTS: The normal aortic arch branching pattern was observed in 192 patients (84.9%). Also, three variations of the aortic arch branching pattern were observed. The aortic arch in 12.4% of the patients had two arterial branches. In 0.9% of cases, the left vertebral artery originated directly from the aortic arch. In 1.8% of cases, the right subclavian artery originated as the fourth aortic arch branch. CONCLUSION: Although the number of cases with aortic arch branches variation in our study is similar to other studies, the Bovine aortic arch variation is more common than other variations of aortic arch branches.

Hippocampal body changes in pure partial onset sleep and pure partial onset waking epileptic patients.

The aim of the current study was to evaluate for the first time the hippocampal changes in patients with pure sleep and pure waking epilepsy. A total of 35 patients with pure partial onset sleep epilepsy and 35 patients with pure partial onset waking epilepsy matched for age and sex ratio were enrolled. MR images were analyzed to determine hippocampal body changes. Rounding ratio of hippocampal body was defined as short axis divided by long axis and hippocampal bodies with ratios ≥ 0.70 were considered rounded. Hippocampal sclerosis and atrophy were found in nine (25.7 %) and seven (20.0 %) patients with pure sleep epilepsy, and in 12 (34.3 %) and 11 (31.4 %) patients with pure waking epilepsy, respectively (P > 0.05 for the comparison between sleep and waking epilepsy). However, proportion of subjects with rounded hippocampal bodies (15, 42.9 % vs. 3, 8.6 % for patients with sleep and waking epilepsy, respectively) and rounding ratios of both left and right hippocampal bodies (0.66 ± 0.13 and 0.61 ± 0.12, respectively for left and right hippocampal bodies in sleep epileptic patients vs. 0.57 ± 0.11 and 0.55 ± 0.11, respectively for left and right hippocampal bodies in waking epileptic patients) were increased in patients with sleep epilepsy (P < 0.05). Further, in sleep epileptic patients with left sided hippocampal body rounding, epileptiform discharges were more readily lateralized to the left temporal lobe (P < 0.05). In conclusion, hippocampal sclerosis and atrophy are not different between pure partial onset sleep and waking epileptic patients. However, rounding ratio and frequency of hippocampal body rounding are increased in sleep epileptic patients.